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SÁNCHEZ FERNÁNDEZ, Mayka

SÁNCHEZ FERNÁNDEZ, Mayka

Professor Agregat
Faculty of Medicine and Health Sciences
Department of Biomedical Sciences
Hereditary Hematology and Iron metabolism
researchgroups.uic.es/ironmetabolism/

Contact

Tel. +34 932 541 800
Ext. 5263
msanchezfe@uic.es
ORCID
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  • Academic training
  • Acknowledgements
  • Projects
    • Competitive
    • Non-competitive
  • Publications
    • Articles
    • Book chapters
  • Subjects taught
  • Doctora en Biologia- Genètica
  • Universitat de Barcelona
  • Licenciada en Bioquímica
  • Universitat de Barcelona
  • Edition 2023. Oral Presentation by M Sanchez: SP-001-RACGAP1, EL NUEVO GEN EN ANEMIA DISERITROPOYÉTICA CONGÉNITA AUTOSÓMICA RECESIVA TIPO IIIB: PACIENTES, MUTACIONES, ESTUDIOS FUNCIONALES Y MODELO EN ZEBRAFISH. Hernández G, Romero-Cortadellas L, et al ....Sánchez M. Remarks: FINALIST: Nominated as Best oral presentation of the whole congress (6 oral presentations were nominated)
    National Congress Prize Finalist: LXV Congreso Nacional SEHH, Sevilla, 26-28 Octubre 2023. Oral Presentation by M Sanchez: SP-001-RACGAP1, EL NUEVO GEN EN ANEMIA DISERITROPOYÉTICA CONGÉNITA AUTOSÓMICA RECESIVA TIPO IIIB: PACIENTES, MUTACIONES, ESTUDIOS FUNCIONALES Y MODELO EN ZEBRAFISH. Hernández G 1, Romero-Cortadellas L2, Bañón A3, Ferrer-Cortès X1, Venturi V2, Dessy-Rodriguez M 4, Olivella M5, Husami A6, Pérez-De-Soto C 7, Morales-Camacho RM8, Villegas A9, González-Fernández FA 9, Morado M 10, Kalfa TA11, Quintana-Bustamante O4, Pérez-Montero S12, Tornador C12, Alsina B3, Segovia JC4, Sánchez M1. Remarks: FINALIST: Nominated as Best oral presentation of the whole congress (6 oral presentations were nominated). Publication congress communications: Journal: Sangre 2023; 42 (Supl 1) page 1., 2023
  • The European Iron Club (EIC) Annual Meeting. Frankfurt, Germany, 28th-29th March
    3rd Prize for the best Oral presentation. Oral presentation by M Sanchez: Ppp1r1b binds Iron Regulatory Proteins and modulates iron cellular content. Laura Calvo-López, Gonzalo Hernández, Ferran Celma Nos and Mayka Sánchez., 2023
  • I3P Award (IEDI-2016-00747) for Excellent Scientific Career
    Spanish Ministry of Science and Innovation. Amount (EUR): 100.000 €. 08/11/2016. This prize is awarded to excellent researchers with a previous “Ramon y Cajal contract” after an external and strict evaluation. Final score: 95/10, 2016
  • Excellence certificate Programme I3
    This accreditation is given to few Ramon Y Cajal contracted researchers after external evaluation and only to those that demonstrate excellence in research., 2014
  • The European Iron Club (EIC) Annual Meeting. Barcelona, Spain, 28-29 September 2006.
    2nd Prize for the best Oral presentation. The European Iron Club (EIC) Annual Meeting. Barcelona, Spain, 28-29 September 2006. Oral presentation bY Mayka sanchez: Identification of an Iron-Responsive Element in the 3’ untranslated region of human CDC14A mRNA by a refined microarray-based screening strategy, 2006
  • Edition 2005. Best thesis work that makes a significant contribution to the transfer of knowledge to society. For the work entitled “Screening of C282Y and H63D mutations of the hemochromatosis gene (HFE) in 5,370 blood donors from the Spanish population”.
    Best thesis : Antoni Caparrós Award by the Social Council of the University of Barcelona, 31 May 2005. Best thesis work that makes a significant contribution to the transfer of knowledge to society. For the work entitled “Screening of C282Y and H63D mutations of the hemochromatosis gene (HFE) in 5,370 blood donors from the Spanish population”., 2005
  • Heidelberg University, Heidelberg, Germany (July 2005-June 2007). TV-L contract in the German salary system for research positions.
    Young Investigator Award der Medizinischen Fakultät Heidelberg. Heidelberg University, Heidelberg, Germany (July 2005-June 2007). TV-L contract in the German salary system for research positions., 2005
  • AVANCES EN DIAGNOSTICO Y TERAPIA PARA ENFERMEDADES HEMATOLOGICAS HEREDITARIAS RARAS (ARETHA)
    PI: Sánchez, M. Start date: 01/01/2022 End date: 31/12/2025
    Financing entity: Ministerio de ciencia e innovación
  • ARETHA: Advances in diagnostic and therapy for rare hereditary haematological diseases (ARETHA, Advances in Rare hErediTary Hematological diseAses)
    PI: Sánchez, M. Start date: 01/09/2022 End date: 31/08/2025
    Financing entity: Ministerio de Ciencia e Innovación (MICINN) Financing entity code: PID2021-122436OB-I00
  • NANOANEMIA-Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención
    PI: Sánchez, M.; Tornador, C.; Merkoçi, A. Start date: 01/12/2021 End date: 30/11/2024
    Financing entity: Ministerio de Ciencia e Innovación (MICINN) Financing entity code: PLEC2021-007727
  • Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención (NANOANAEMIA)
    PI: Sánchez, M.; Merkoçi, A.; Tornador, C. Start date: 01/01/2021 End date: 31/12/2023
    Financing entity: Ministerio de ciencia e innovación
  • RETOS COLABORACION-Nuevas aproximaciones para el diagnóstico y tratamiento de la anemia diseritropoyética congénita: Secuenciación masiva y terapia génica
    PI: Sánchez, M.; Tornador, C.; Segovia, J.; Ramirez, J.C. Start date: 01/01/2020 End date: 31/12/2023
    Financing entity: MINISTERIO DE CIENCIA E INNOVACION Financing entity code: RTC2019-007074-1
  • EU project 894737-Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia
    PI: Sánchez, M. Start date: 16/03/2021 End date: 15/05/2023
    Financing entity: European Union Financing entity code: EU project 894737 -MSCA-IF-EF-SE - Society and Enterprise panel
  • NEOTEC-CDTI-Mejoras en el diagnóstico y desarrollo de herramientas moleculares para terapia génica en Anemia diseritropoyética congénita (ADC)
    PI: Sánchez, M.; Tornador, C.; Segovia, J. Start date: 01/01/2020 End date: 31/12/2021
    Financing entity: CDTI; Ministerio de Ciencia e Innovación (MICINN) Financing entity code: SNEO-20191246
  • Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON, Advances in IRON physiopatology)
    PI: Sánchez, M. Start date: 01/01/2019 End date: 31/12/2021
    Financing entity: Ministerio de ciencia e innovación
  • Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON)
    PI: Sánchez, M. Start date: 01/01/2019 End date: 31/12/2021
    Financing entity: Ministerio de Ciencia, Innovación y Universidades Financing entity code: RTI2018-101735-B-I00
  • Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
    PI: Sánchez, M. Start date: 02/03/2017 End date: 01/03/2020
    Financing entity: Fundación Ramón Areces Financing entity code: CIVP18A1857
  • Convenio APU-ADISCON-UIC
    PI: Sánchez, M. Start date: 01/12/2018 End date: 30/11/2027
    Financing entity: Fundación Pablo Ugarte
  • Convenio APU-ADISCON-IJC
    PI: Sánchez, M. Start date: 03/08/2015 End date: 30/11/2018
    Financing entity: Fundación Pablo Ugarte
  • Nucleic acids research, SIREs 3.0, an improved RNA prediction tool for iron-responsive elements
    Name: Suarez, C.; Navarro, M.; Chorostecki, U.; Sánchez, M. Role: Autor Publishing date: 2025
    DOI: 10.1093/nar/gkaf390 ISSN or title: 0305-1048
  • Scientific Reports, The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation
    Name: Jové, D.; Rámila, M.; Ferrer, X.; Olivella, M.; Venturi, V.; Morado, M.; Hernández, I.; Khan, A.; Pérez-Montero, S.; Tornador, C.; Germing, U.; Gattermann, N.; Sánchez, M. Role: Autor Publishing date: 2025
    Vol.: 15
    DOI: 10.1038/s41598-025-95590-x ISSN or title: 2045-2322
  • Molecular Medicine, Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis
    Name: Giroud, J.; Sotillo,F.; Hernandez, G.; Ruano, I.; Sebastián, D.; Fort, J.; Sánchez, M.; Weiss, G.; Prats, N.; Zorzano, A.; Palacín, M.; Bodoy, S. Role: Autor Publishing date: 2025
    Vol.: 31
    DOI: 10.1186/s10020-025-01100-0 ISSN or title: 1528-3658
  • Hemasphere, Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
    Name: Iolascon, A.; Andolfo, I.; Russo, R.; Sánchez, M.; Busti, F.; Swinkels, D.; Aguilar , P.; Bou, R.; Muckenthaler, M.; Unal , S.; Porto, G.; Ganz, T.; Kattamis, A.; De Franceschi, L.; Cappellini, M.; Munro , M.; Taher, A. Role: Autor Publishing date: 2024
    Vol.: 8 No.: 7
    DOI: 10.1002/hem3.108 ISSN or title: 2572-9241
  • NATURE METABOLISM, Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype
    Name: Maus, M.; López, V.; Mateo, L.; Lafarga, M.; Aguilera, M.; De Lama, E.; Meyer, K.; Sola, A.; Lopez, C.; López, I.; Guasch, M.; Hernandez, F.; Chaib, S.; Rovira, M.; Sánchez, M.; Faner, R.; Agusti, A.; Diéguez, R.; Ortega, S.; Manonelles, A.; Engelhardt, S.; Monteiro, F.; Stephan-Otto, C.; Prats, N.; Albaiceta, G.; Cruzado, J.; Serrano, M. Role: Autor Publishing date: 2023
    Start page: 2111 End page: 2130 Vol.: 5
    DOI: 10.1038/s42255-023-00928-2 ISSN or title: 2522-5812
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernández Viedma, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández , M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez-Valencia, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: 10.3390/ijms24129935 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernandez, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández, M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: 10.3390/ijms24129935 ISSN or title: 1422-0067
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
    Name: Hernández Viedma, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M. Role: Autor Publishing date: 2023
    Start page: 581 End page: 587 Vol.: 108 No.: 2
    DOI: 10.3324/haematol.2022.281277 ISSN or title: 0390-6078
  • Health Expectations, Haemochromatosis patients' research priorities: Towards an improved quality of life
    Name: Romero, L.; Venturi, V.; Martín-Sánchez, JC; Kosta, K.; Prince, D.; Butzeck, B.; Porto, G.; Thorm, N.; Sánchez, M. Role: Autor Publishing date: 2023
    DOI: 10.1111/hex.13830 ISSN or title: 1369-7625
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive Congenital Dyserythropoietic Anemia type III.
    Name: Hernandez, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M. Role: Autor Publishing date: 2022
    ISSN or title: 0390-6078
  • British Journal of Haematology, The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*
    Name: Sánchez, M. Role: Autor Publishing date: 2022
    Start page: 459 End page: 459 Vol.: 198 No.: 3
    DOI: 10.1111/bjh.18191 ISSN or title: 1365-2141
  • Hemasphere, The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
    Name: Roy, N.; Da Costa, L.; Russo, R.; Bianchi, P.; Manu-Pereira, M.; Fermo, E.; Andolfo, I.; Clark, B.; Proven, M.; Sánchez, M.; van Wijk, R.; van der Zwaag, B.; Layton, M.; Rees, D.; Iolascon, A. Role: Autor Publishing date: 2022
    Vol.: 6 No.: 6
    DOI: 10.1097/HS9.0000000000000739 ISSN or title: 2572-9241
  • International Journal of Molecular Sciences, New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation
    Name: Romero, L.; Hernández Viedma, G.; Ferrer, X.; Zalba-Jadraque, L.; Fuster, JL.; Bermúdez-Cortés, M.; Galera-Minarro, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2022
    Vol.: 23 No.: 8
    DOI: 10.3390/ijms23084406 ISSN or title: 1422-0067
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernández Viedma, G.; Ferrer, X.; Venturi, V.; Mara, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: 10.3390/genes12121980 ISSN or title: 2073-4425
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernandez, G.; Ferrer, X.; Venturi, V.; Musri, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: 10.3390/genes12121980 ISSN or title: 2073-4425
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernández Viedma, G.; Ferrer, X.; Hernández-Rodriguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez-Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: 10.3390/ijms22115451 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernandez, G.; Ferrer, X.; Hernández-Rodríguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: 10.3390/ijms22115451 ISSN or title: 1422-0067
  • Haematologica-the Hematology journal, A mutation in the Iron-Responsive Element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated Erythropoietic Protoporphyria
    Name: Duncamp, S.; Luscieti, S.; Ferrer, X.; Nicolas, G.; Manceau, H.; Peoc’h, K.; Yien, Y.Y.; Kannengiesser, C.; Gouya, L.; Puy, H.; Sánchez, M. Role: Autor Publishing date: 2021
    Start page: 2030 End page: 2033 Vol.: 106 No.: 7
    DOI: 10.3324/haematol.2020.272450 ISSN or title: 0390-6078
  • Blood, Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payan, S.; Tornador, C.; Hernández, G.; Bianchi, P.; Sánchez, M.; Ramirez, J.C.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2021
    Vol.: 138 No.: 1
    DOI: 10.1182/blood-2021-152332 ISSN or title: 0006-4971
  • Hemasphere, Control of Systemic Iron Homeostasis by the 3' Iron-Responsive Element of Divalent Metal Transporter 1 in Mice
    Name: Tybl, E.; Gunshin, H.; Gupta, S.; Barrientos, T.; Bonadonna, M.; Celma, F.; Palais, G.; Karim, Z.; Sánchez, M.; Andrews, N.; Galy, B. Role: Autor Publishing date: 2020
    Vol.: 4 No.: 5
    DOI: 10.1097/HS9.0000000000000459 ISSN or title: 2572-9241
  • International Journal of Molecular Sciences, Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis
    Name: Vila-Cuenca, M.; Marchi, G.; Barque, A.; Esteban-Jurado, C.; Marchetto, A.; Giorgetti , A.; Chelban, V.; Houlden, H.; Wood , NW.; Piubelli, C.; Dorigatti-Borges, M.; Martins-de-Albuquerque, D.; Yotsumoto-Fertrin, K.; Jové-Buxeda, E.; Sanchez-Delgado, J.; Baena-Díez, N.; Burnyte, B.; Utkus, A.; Busti, F.; Kaubrys, G.; Suku, E.; Kowalczyk, K.; Karaszewski, B.; Porter, JB.; Pollard, S.; Eleftheriou, P.; Bignell, P.; Girelli, D.; Sánchez, M. Role: Autor Publishing date: 2020
    Vol.: 21 No.: 7
    DOI: 10.3390/ijms21072374 ISSN or title: 1422-0067
  • Blood, Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payán, S.; Tornador, C.; Hernandez, G.; Sánchez, M.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2020
    Vol.: 136 No.: 1
    DOI: 10.1182/blood-2020-139207 ISSN or title: 0006-4971
  • Frontiers in Physiology, CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia
    Name: Tornador, C.; Sánchez-Prados, E.; Cadenas, B.; Russo, R.; Venturi, V.; Andolfo, I.; Hernández-Rodriguez, I.; Iolascon, A.; Sánchez, M. Role: Autor Publishing date: 2019
    Vol.: 10
    DOI: 10.3389/fphys.2019.01063 ISSN or title: 1664-042X
  • Pharmaceuticals, L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases
    Name: Cadenas, B.; Fita-Torró, J.; Bermúdez-Cortés, M.; Hernández-Rodriguez, I.; Fuster, JL.; Llinares, ME.; Galera, AM.; Romero, JL.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2019
    Vol.: 12 No.: 1
    DOI: 10.3390/ph12010017 ISSN or title: 1424-8247
  • Haematologica-the Hematology journal, The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
    Name: Riley LG; Heeney, M.; Rudinger-Thirion, J.; Frugier, M.; Campagna, D.R.; Zhou, R.; Hale, G.; Hilliard, LM.; Kaplan, J.A.; Kwiatkowski, J.L.; Sieff, C.A.; Steensma, D.P.; Rennings, A.J.; Simons, A.; Schaap, N.; Roodenburg, R.J.; Kleefstra, T.; Arenillas, L.; Fita-Torró, J.; Ahmed, R.; Abboud, M.; Bechara, E.; Farah, R.; Tamminga, R.Y.J.; Bottomley, S.S.; Sánchez, M.; Swinkels, D.W.; Christodoulou, J.; Fleming, M.D. Role: Autor Publishing date: 2018
    Start page: 2008 End page: 2015 Vol.: 103 No.: 12
    DOI: 10.3324/haematol.2017.182659 ISSN or title: 0390-6078
  • Hepatology international, Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
    Name: Adams, P.; Altes Hernández, A.; Brissot, P.; Butzeck, B.; Cabantchik, I.; Cançado, R.; Distante, S.; Evans, P.; Evans, R.; Ganz, T.; Girelli, D.; Hultcrantz, R.; McLaren, G.; Marris, B.; Milman, N.; Nemeth, E.; Nielsen, P.; Pineau, B.; Piperno, A.; Porto, G.; Prince, D.; Ryan, J.; Sánchez, M.; Santos, P.; Swinkels, D.; Teixeira, E.; Kosta, K.; Vanclooster, A.; White, D. Role: Autor Publishing date: 2018
    Start page: 83 End page: 88 Vol.: 12 No.: 2
    DOI: 10.1007/s12072-018-9855-0 ISSN or title: 1936-0533
  • Scientific Reports, Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.
    Name: Van de Sompele, S.; Pécheux, L.; Couso, J.; Meunier, A.; Sánchez, M.; De Baere, E. Role: Autor Publishing date: 2017
    Start page: 1 End page: 10 Vol.: 7 No.: 18025
    DOI: 10.1038/s41598-017-18326-6 ISSN or title: 2045-2322
  • Blood, The actin binding protein profilin 2 is a novel regulator of iron homeostasis.
    Name: Luscieti, S.; Galy, B.; Gutierrez, L.; Reinke, M.; Couso, J.; Shvartsman, M.; Di Pascale, A.; Witke, W.; Hentze, M.W.; Pilo Boyl, P.; Sánchez, M. Role: Autor Publishing date: 2017
    Start page: 1934 End page: 1945 Vol.: 130 No.: 17
    DOI: 10.1182/blood-2016-11-754382 ISSN or title: 0006-4971
  • Genética Médica y Genómica, Cuando el hierro es tóxico
    Name: Barqué, A.; Sánchez, M. Role: Autor Publishing date: 2017
    Start page: 49 End page: 60 Vol.: 1 No.: 1
    ISSN or title: 2605-0463
  • Haematologica-the Hematology journal, The European Hematology Association Roadmap for European Hematology Research: a consensus document
    Name: Engert, A.; Balduini, C.; Brand, A.; Coiffier, B.; Sánchez, M.; European Hematology Research authors, A. Role: Autor Publishing date: 2016
    Start page: 115 End page: 208 Vol.: 101 No.: 2
    DOI: 10.3324/haematol.2015.136739 ISSN or title: 0390-6078
  • Molecular genetics and genomics, Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3
    Name: Joshi, R.; Shvartsman, M.; Morán, E.; Lois, S.; Aranda, J.; Barqué, A.; de la Cruz, X.; Bruguera, M.; Vagace, J.M.; Gervasini, G.; Sanz, C.; Sánchez, M. Role: Autor Publishing date: 2015
    Start page: 221 End page: 232 Vol.: 3 No.: 3
    DOI: 10.1002/mgg3.136 ISSN or title: 1617-4615
  • Human mutation, Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies
    Name: de Falco, L.; Silvestri, L.; Kannengiesser, C.; Morán, E.; Oudin, C.; Rausa, M.; Bruno, M.; Aranda, J.; Argiles, B.; Yenicesu, I.; Falcon-Rodriguez, M.; Yilmaz-Keskin, E.; Kocak, U.; Beaumont, C.; Camaschella, C.; Iolascon, A.; Grandchamp , B.; Sánchez, M. Role: Autor Publishing date: 2014
    Start page: 1321 End page: 1329 Vol.: 35 No.: 11
    DOI: 10.1002/humu.22632 ISSN or title: 1059-7794
  • Patient education and counseling, The importance of the general practitioner as an information source for patients with hereditary haemochromatosis
    Name: Teixeira, E.; Borlido-Santos, J.; Brissot, P.; Butzeck, B.; Courtois, F.; Evans, R.W.; Fernau, J.; Nunes, J.A.; Mullett, M.; Paneque, M.; Pineau, B.; Porto, G.; Sorrill, R.; Sánchez, M.; Swinkels, D.W.; Toska, K.; Varkonyi, J.; EFAPH Role: Autor Publishing date: 2014
    Start page: 86 End page: 92 Vol.: 96 No.: 1
    DOI: 10.1016/j.pec.2014.04.017 ISSN or title: 0738-3991
  • Medicina Clinica, Systematic approach to the diagnosis of hyperferritinemia
    Name: Altés, A.; Pérez-Lucena, M.J.; Bruguera, M.; Sánchez, M.; Grp Iberico Ferropatologia Role: Autor Publishing date: 2014
    Start page: 412 End page: 417 Vol.: 142 No.: 9
    DOI: 10.1016/j.medcli.2013.06.010 ISSN or title: 1578-8989 00257753
  • PLoS One, Molecular Evolution of Multiple-Level Control of Heme Biosynthesis Pathway in Animal Kingdom
    Name: Tzou, W.S.; Chu, Y.; Lin, T.Y.; Hu, C.H.; Pai, T.W.; Liu, H.F.; Lin, H.J.; Cases, I.; Rojas, A.; Sánchez, M.; You, Z.Y.; Hsu, M.W. Role: Autor Publishing date: 2014
    Vol.: 9 No.: 1
    DOI: 10.1371/journal.pone.0086718 ISSN or title: 1932-6203
  • British journal of haematology, Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications
    Name: Athiyarath, R.; Arora, N.; Fuster, F.; Schwarzenbacher, R.; Ahmed, R.; George, B.; Chandy, M.; Srivastava, A.; Rojas, A.M.; Sánchez, M.; Edison, E.S. Role: Autor Publishing date: 2013
    Start page: 404 End page: 407 Vol.: 163 No.: 3
    DOI: 10.1111/bjh.12487 ISSN or title: 0007-1048
  • Haematologica-the Hematology journal, Iron refractory iron deficiency anemia
    Name: de Falco, L.; Sánchez, M.; Silvestri, L.; Kannengiesser, C.; Muckenthaler, M.; Iolascon, A.; Gouya, L.; Camaschella, C.; Beaumont, C. Role: Autor Publishing date: 2013
    Start page: 845 End page: 853 Vol.: 98 No.: 6
    DOI: 10.3324/haematol.2012.075515 ISSN or title: 0390-6078
  • Orphanet journal of rare diseases, Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
    Name: Luscieti, S.; Tolle, G.; Aranda, J.; Benet-Campos, C.; Risse F.; Morán, E.; Muckenthaler, M.; Sánchez, M. Role: Autor Publishing date: 2013
    Vol.: 8
    DOI: 10.1186/1750-1172-8-30 ISSN or title: 1750-1172
  • Journal of molecular medicine (JMM), Siderophore-mediated iron trafficking in humans is regulated by iron
    Name: Liu, Z.; Lanford, R.; Mueller, S.; Gerhard, G.S.; Luscieti, S.; Sánchez, M.; Devireddy, L. Role: Autor Publishing date: 2012
    Start page: 1209 End page: 1221 Vol.: 90 No.: 10
    DOI: 10.1007/s00109-012-0899-7 ISSN or title: 0946-2716
  • Blood, Iron regulatory protein-1 and-2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins
    Name: Sánchez, M.; Galy, B.; Schwanhaeusser, B.; Blake, J.; Bähr-Ivacevic, T.; Benes, V.; Selbach, M.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2011
    Start page: e168 End page: e179 Vol.: 118 No.: 22
    DOI: 10.1182/blood-2011-04-343541 ISSN or title: 0006-4971
  • Immunobiology, Mycobacteria-induced anaemia revisited: A molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin
    Name: Rodrigues P.N; Gomes, S.; Neves, J.; Gomes-Pereira, S.; Correia-Neves, M.; Nunes-Alves, C.; Stolte, J.; Sánchez, M.; Appelberg, R.; Muckenthaler, M. Role: Autor Publishing date: 2011
    Start page: 1127 End page: 1134 Vol.: 216 No.: 10
    DOI: 10.1016/j.imbio.2011.04.004 ISSN or title: 0171-2985
  • Haematologica-the Hematology journal, Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
    Name: Kannengiesser, C.; Sánchez, M.; Sweeney, M.; Hetet, G.; Kerr, B.; Moran, E.; Fuster Soler, J.; Maloum, K.; Matthes, T.; Oudot, C.; Lascaux, A.; Pondarre, C.; Sevilla Navarro, J.; Vidyatilake, S.; Beaumont, C.; Grandchamp , B.; May, A. Role: Autor Publishing date: 2011
    Start page: 808 End page: 813 Vol.: 96 No.: 6
    DOI: 10.3324/haematol.2010.039164 ISSN or title: 0390-6078
  • Nucleic acids research, SIREs: searching for iron-responsive elements
    Name: Campillos, M.; Cases, I.; Hentze, M.W.; Sánchez, M. Role: Autor Publishing date: 2010
    Start page: W360 End page: W367 Vol.: 38 No.: sup. 2
    DOI: 10.1093/nar/gkq371 ISSN or title: 0305-1048
  • BMC bioinformatics, The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays
    Name: Vainshtein, Y.; Sánchez, M.; Brazma, A.; Hentze, M.W.; Dandekar, T.; Muckenthaler, M. Role: Autor Publishing date: 2010
    Vol.: 11
    DOI: 10.1186/1471-2105-11-112 ISSN or title: 1471-2105
  • Human molecular genetics, Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
    Name: Ramsay, A.J.; Quesada, V.; Sánchez, M.; Garabaya, C.; Sardà, M.P.; Baiget M; Remacha, A.; Velasco, G.; López-Otín C. Role: Autor Publishing date: 2009
    Start page: 3673 End page: 3683 Vol.: 18 No.: 19
    DOI: 10.1093/hmg/ddp315 ISSN or title: 0964-6906
  • Blood, Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element? [10]
    Name: Percy, MJ.; Sánchez, M.; Swierczek, S.; Mcmullin, MF.; Mojica-Henshaw, MP.; Muckenthaler, M.; Prchal, JT.; Hentze, M.W. Role: Autor Publishing date: 2007
    Start page: 2776 End page: 2777 Vol.: 110 No.: 7
    DOI: 10.1182/blood-2007-03-082503 ISSN or title: 0006-4971
  • Nature protocols (Print), Identification of target mRNAs of regulatory RNA binding proteins using mRNP immunopurification and microarrays
    Name: Sánchez, M.; Galy, B.; Hentze, M.W.; Muckenthaler, M. Role: Autor Publishing date: 2007
    Start page: 2033 End page: 2042 Vol.: 2 No.: 8
    DOI: 10.1038/nprot.2007.293 ISSN or title: 1754-2189
  • Nature structural and molecular biology, Iron-regulatory proteins limit hypoxia-inducible factor-2α expression in iron deficiency
    Name: Sánchez, M.; Galy, B.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2007
    Start page: 420 End page: 426 Vol.: 14 No.: 5
    DOI: 10.1038/nsmb1222 ISSN or title: 1545-9993
  • Journal of biological chemistry, Iron regulation and the cell cycle - Identification of an iron-responsive element in the 3 '-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy
    Name: Sánchez, M.; Galy, B.; Dandekar, T.; Bengert, P.; Vainshtein, Y.; Stolte, J.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2006
    Start page: 22865 End page: 22874 Vol.: 281 No.: 32
    DOI: 10.1074/jbc.M603876200 ISSN or title: 0021-9258
  • Endocrine, The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Name: Oliva, R.; Novials, A.; Sánchez, M.; Villa, M.; Ingelmo, M.; Recasens, M.; Ascaso, C.; Bruguera, M.; Gomis, R. Role: Autor Publishing date: 2004
    Start page: 111 End page: 114 Vol.: 24 No.: 2
    DOI: 10.1385/ENDO:24:2:111 ISSN or title: 0969-711X
  • Nature genetics, An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
    Name: Roy, CN.; Custodio, AO.; de Graaf, J.; Schneider, S.; Akpan, I.; Montoss, LK.; Sánchez, M.; Gaudino, A.; Hentze, M.W.; Andrews, N.; Muckenthaler, M. Role: Autor Publishing date: 2004
    Start page: 481 End page: 485 Vol.: 36 No.: 5
    DOI: 10.1038/ng1350 ISSN or title: 1061-4036
  • Journal of hepatology, Population screening for hemochromatosis: a study in 5370 Spanish blood donors
    Name: Sánchez, M.; Villa, M.; Ingelmo, M.; Sanz, C.; Bruguera, M.; Ascaso, C.; Oliva, R. Role: Autor Publishing date: 2003
    Start page: 745 End page: 750 Vol.: 38 No.: 6
    DOI: 10.1016/S0168-8278(03)00123-5 ISSN or title: 0168-8278
  • Blood cells molecules and diseases, Complete characterization of the 3′ region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    Name: Sánchez, M.; Bruguera, M.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2001
    Start page: 35 End page: 43 Vol.: 27 No.: 1
    DOI: 10.1006/bcmd.2000.0346 ISSN or title: 1079-9796
  • Gastroenterologia y Hepatologia, Clinical usefulness of the detection of mutations of the HFE gene in hemochromatosis
    Name: Oliva, R.; Sánchez, M.; Bruguera, M.; Rodes, J. Role: Autor Publishing date: 2000
    Start page: 433 End page: 435 Vol.: 23 No.: 9
    ISSN or title: 0210-5705
  • Genetic testing, Hereditary Hemochromatosis in Spain
    Name: Sánchez, M.; Bruguera, M.; Quintero, E.; Barrio, Y.; Mazzara, R.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2000
    Start page: 171 End page: 176 Vol.: 4 No.: 2
    DOI: 10.1089/10906570050114885 ISSN or title: 1090-6576
  • Gene, Cloning, sequencing and characterization of the rat HFE promoter. Comparison of the human, mouse and rat hemochromatosis HFE promoter regions
    Name: Sánchez, M.; Queralt, R.; Bruguera, M.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 77 End page: 87 Vol.: 225 No.: 1-2
    DOI: 10.1016/S0378-1119(98)00519-8 ISSN or title: 0378-1119
  • Journal of hepatology, revalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez, M.; Bruguera, M.; Bosch, J.; Rodes, J.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 725 End page: 728 Vol.: 29 No.: 5
    ISSN or title: 0168-8278
  • Biochemical and biophysical research communications, Identification of conserved potentially regulatory sequences of the SRY gene from different species of mammals
    Name: Margarit, E.; Guillem, A.; Rebordosa, C.; Vidal-Taboada, J.; Sánchez, M.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 370 End page: 377 Vol.: 245 No.: 2
    DOI: 10.1006/bbrc.1998.8441 ISSN or title: 0006-291X
  • Biochemical and biophysical research communications, High resolution mapping and identification of transcribed sequences in the Down Syndrome region-2
    Name: Vidal-Taboada, J.; Bergoñon, S.; Sánchez, M.; López-Acedo, C.; Groet, J.; Nižetić, D.; Egeo, A.; Scartezzini, P.; Katsanis, N.; Fisher, E.; Delabar, J.M.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 572 End page: 578 Vol.: 243 No.: 2
    DOI: 10.1006/bbrc.1998.8141 ISSN or title: 0006-291X
  • Capítulo 19 Hemocromatosis. Eritropatología. 2nd Edition.
    Name: Sánchez, M. Role: Autor Publishing date: 31/05/2024
    Start page: 501 End page: 516
    ISBN: 978-84-125780-7-2
  • Capítulo Anemias Sideroblásticas Congénitas.. Guía de Recomendaciones para el Diagnóstico Genético y Seguimiento de Neoplasias Hematológicas
    Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 02/10/2017
  • Capítulo Hemocromatosis. Guía de recomendaciones para el diagnóstico genético y seguimiento de neoplasias
    Name: Sánchez, M.; Blas-López, C. Role: Autor Publishing date: 02/10/2017
  • Capítulo 30 Hemocromatosis Hereditaria. Eritropatología
    Name: Sánchez, M.; Altés, A. Role: Autor Publishing date: 11/09/2017
    Start page: 569 End page: 582
    ISBN: 978-84-945945-4-0
  • Capítulo 8 Anemias sideroblásticas congénitas.. Eritropatología
    Name: Sánchez, M. Role: Autor Publishing date: 11/09/2017
    ISBN: 978-84-945945-4-0
  • Capítulo 33. Anemias sideroblásticas congénitas. Manual Práctico de Genética Hematológica
    Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 01/06/2016
    ISBN: 9788460857570
  • Capítulo 36. Hemocromatosis. Manual Práctico de Genética Hematológica
    Name: Sánchez, M.; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C. Role: Autor Publishing date: 01/06/2016
    ISBN: 9788460857570
  • Tema 3. Trastornos del hierro en el organismo y métodos de estudio. Dentro del Módulo 4. Anemia y Poliglobulia.. Experto en bases del diagnóstico en Hematología
    Name: Sánchez, M. Role: Autor Publishing date: 01/05/2016
    ISBN: 9788491100317
  • Capítulo 15: Métodos para el diagnóstico de la ferropenia y el exceso de hierro. Manual de técnicas de laboratorio en hematología
    Name: Sánchez, M.; Vives-Corrons, J.L. Role: Autor Publishing date: 01/06/2014
    Start page: 390 End page: 433
    ISBN: 987-84-458-2147-3
  • Hereditary non-sideroblastic Anemia and Inherited Iron disorders. ENERCA reccommendations for Centres of Expertise in rare anaemias: A White Book
    Name: Sánchez, M. Role: Autor Publishing date: 01/05/2014
    ISBN: 978-84-939018-8-1
  • Capitulo 31. Práctica 6: bases de dades i d'anàlisi de seqüències a internet. Genética Médica
    Name: Oliva, R.; Vidal-Taboada, J.; Sánchez, M. Role: Autor Publishing date: 01/05/2013
    ISBN: 978-84-475-3688-7
  • Cellular Iron Metabolism- the IRP/IRE regulatory network. Iron Metabolism
    Name: Joshi, R.; Morán, E.; Sánchez, M. Role: Autor Publishing date: 01/05/2012
    Start page: 25 End page: 58
    ISBN: 978-953-51-0650-0
  • Capitol 29: Base de dades i d'anàlisis de seqüències a internet. Genètica Mèdica
    Name: Vidal-Taboada, J.; Sánchez, M.; Oliva, R. Role: Autor Publishing date: 01/01/2004
    ISBN: 84-475-2809-X
Course 2025-2026 - Period: 01/09/2025 - 31/08/2026
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Final Degree Project
    • - Clinical Genetics
    • - Genetics
    • - External Laboratory Practices
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Practicum I
    • - Final Master's Degree Project
    • - Practicum II
    • - Research On Rare Diseases
Course 2024-2025 - Period: 01/09/2024 - 31/08/2025
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Clinical Genetics
    • - Genetics
    • - Final Degree Project
    • - Work Placement
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2023-2024 - Period: 01/09/2023 - 31/08/2024
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2022-2023 - Period: 01/09/2022 - 31/08/2023
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2021-2022 - Period: 01/09/2021 - 31/08/2022
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2020-2021 - Period: 01/09/2020 - 31/08/2021
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2019-2020 - Period: 01/09/2019 - 31/08/2020
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
Course 2018-2019 - Period: 01/09/2018 - 31/08/2019
  • Bachelor’s Degree
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Others
    UIC - Specific Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Integrated Biomedicine I

Academic training

  • Doctora en Biologia- Genètica
  • Universitat de Barcelona
  • Licenciada en Bioquímica
  • Universitat de Barcelona

Acknowledgements

  • Edition 2023. Oral Presentation by M Sanchez: SP-001-RACGAP1, EL NUEVO GEN EN ANEMIA DISERITROPOYÉTICA CONGÉNITA AUTOSÓMICA RECESIVA TIPO IIIB: PACIENTES, MUTACIONES, ESTUDIOS FUNCIONALES Y MODELO EN ZEBRAFISH. Hernández G, Romero-Cortadellas L, et al ....Sánchez M. Remarks: FINALIST: Nominated as Best oral presentation of the whole congress (6 oral presentations were nominated)
    National Congress Prize Finalist: LXV Congreso Nacional SEHH, Sevilla, 26-28 Octubre 2023. Oral Presentation by M Sanchez: SP-001-RACGAP1, EL NUEVO GEN EN ANEMIA DISERITROPOYÉTICA CONGÉNITA AUTOSÓMICA RECESIVA TIPO IIIB: PACIENTES, MUTACIONES, ESTUDIOS FUNCIONALES Y MODELO EN ZEBRAFISH. Hernández G 1, Romero-Cortadellas L2, Bañón A3, Ferrer-Cortès X1, Venturi V2, Dessy-Rodriguez M 4, Olivella M5, Husami A6, Pérez-De-Soto C 7, Morales-Camacho RM8, Villegas A9, González-Fernández FA 9, Morado M 10, Kalfa TA11, Quintana-Bustamante O4, Pérez-Montero S12, Tornador C12, Alsina B3, Segovia JC4, Sánchez M1. Remarks: FINALIST: Nominated as Best oral presentation of the whole congress (6 oral presentations were nominated). Publication congress communications: Journal: Sangre 2023; 42 (Supl 1) page 1., 2023
  • The European Iron Club (EIC) Annual Meeting. Frankfurt, Germany, 28th-29th March
    3rd Prize for the best Oral presentation. Oral presentation by M Sanchez: Ppp1r1b binds Iron Regulatory Proteins and modulates iron cellular content. Laura Calvo-López, Gonzalo Hernández, Ferran Celma Nos and Mayka Sánchez., 2023
  • I3P Award (IEDI-2016-00747) for Excellent Scientific Career
    Spanish Ministry of Science and Innovation. Amount (EUR): 100.000 €. 08/11/2016. This prize is awarded to excellent researchers with a previous “Ramon y Cajal contract” after an external and strict evaluation. Final score: 95/10, 2016
  • Excellence certificate Programme I3
    This accreditation is given to few Ramon Y Cajal contracted researchers after external evaluation and only to those that demonstrate excellence in research., 2014
  • The European Iron Club (EIC) Annual Meeting. Barcelona, Spain, 28-29 September 2006.
    2nd Prize for the best Oral presentation. The European Iron Club (EIC) Annual Meeting. Barcelona, Spain, 28-29 September 2006. Oral presentation bY Mayka sanchez: Identification of an Iron-Responsive Element in the 3’ untranslated region of human CDC14A mRNA by a refined microarray-based screening strategy, 2006
  • Edition 2005. Best thesis work that makes a significant contribution to the transfer of knowledge to society. For the work entitled “Screening of C282Y and H63D mutations of the hemochromatosis gene (HFE) in 5,370 blood donors from the Spanish population”.
    Best thesis : Antoni Caparrós Award by the Social Council of the University of Barcelona, 31 May 2005. Best thesis work that makes a significant contribution to the transfer of knowledge to society. For the work entitled “Screening of C282Y and H63D mutations of the hemochromatosis gene (HFE) in 5,370 blood donors from the Spanish population”., 2005
  • Heidelberg University, Heidelberg, Germany (July 2005-June 2007). TV-L contract in the German salary system for research positions.
    Young Investigator Award der Medizinischen Fakultät Heidelberg. Heidelberg University, Heidelberg, Germany (July 2005-June 2007). TV-L contract in the German salary system for research positions., 2005

Projects

Competitive

Non-competitive

  • AVANCES EN DIAGNOSTICO Y TERAPIA PARA ENFERMEDADES HEMATOLOGICAS HEREDITARIAS RARAS (ARETHA)
    PI: Sánchez, M. Start date: 01/01/2022 End date: 31/12/2025
    Financing entity: Ministerio de ciencia e innovación
  • ARETHA: Advances in diagnostic and therapy for rare hereditary haematological diseases (ARETHA, Advances in Rare hErediTary Hematological diseAses)
    PI: Sánchez, M. Start date: 01/09/2022 End date: 31/08/2025
    Financing entity: Ministerio de Ciencia e Innovación (MICINN) Financing entity code: PID2021-122436OB-I00
  • NANOANEMIA-Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención
    PI: Sánchez, M.; Tornador, C.; Merkoçi, A. Start date: 01/12/2021 End date: 30/11/2024
    Financing entity: Ministerio de Ciencia e Innovación (MICINN) Financing entity code: PLEC2021-007727
  • Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención (NANOANAEMIA)
    PI: Sánchez, M.; Merkoçi, A.; Tornador, C. Start date: 01/01/2021 End date: 31/12/2023
    Financing entity: Ministerio de ciencia e innovación
  • RETOS COLABORACION-Nuevas aproximaciones para el diagnóstico y tratamiento de la anemia diseritropoyética congénita: Secuenciación masiva y terapia génica
    PI: Sánchez, M.; Tornador, C.; Segovia, J.; Ramirez, J.C. Start date: 01/01/2020 End date: 31/12/2023
    Financing entity: MINISTERIO DE CIENCIA E INNOVACION Financing entity code: RTC2019-007074-1
  • EU project 894737-Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia
    PI: Sánchez, M. Start date: 16/03/2021 End date: 15/05/2023
    Financing entity: European Union Financing entity code: EU project 894737 -MSCA-IF-EF-SE - Society and Enterprise panel
  • NEOTEC-CDTI-Mejoras en el diagnóstico y desarrollo de herramientas moleculares para terapia génica en Anemia diseritropoyética congénita (ADC)
    PI: Sánchez, M.; Tornador, C.; Segovia, J. Start date: 01/01/2020 End date: 31/12/2021
    Financing entity: CDTI; Ministerio de Ciencia e Innovación (MICINN) Financing entity code: SNEO-20191246
  • Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON, Advances in IRON physiopatology)
    PI: Sánchez, M. Start date: 01/01/2019 End date: 31/12/2021
    Financing entity: Ministerio de ciencia e innovación
  • Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON)
    PI: Sánchez, M. Start date: 01/01/2019 End date: 31/12/2021
    Financing entity: Ministerio de Ciencia, Innovación y Universidades Financing entity code: RTI2018-101735-B-I00
  • Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
    PI: Sánchez, M. Start date: 02/03/2017 End date: 01/03/2020
    Financing entity: Fundación Ramón Areces Financing entity code: CIVP18A1857
  • Convenio APU-ADISCON-UIC
    PI: Sánchez, M. Start date: 01/12/2018 End date: 30/11/2027
    Financing entity: Fundación Pablo Ugarte
  • Convenio APU-ADISCON-IJC
    PI: Sánchez, M. Start date: 03/08/2015 End date: 30/11/2018
    Financing entity: Fundación Pablo Ugarte

Publications

Articles

Book chapters

  • Nucleic acids research, SIREs 3.0, an improved RNA prediction tool for iron-responsive elements
    Name: Suarez, C.; Navarro, M.; Chorostecki, U.; Sánchez, M. Role: Autor Publishing date: 2025
    DOI: 10.1093/nar/gkaf390 ISSN or title: 0305-1048
  • Scientific Reports, The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation
    Name: Jové, D.; Rámila, M.; Ferrer, X.; Olivella, M.; Venturi, V.; Morado, M.; Hernández, I.; Khan, A.; Pérez-Montero, S.; Tornador, C.; Germing, U.; Gattermann, N.; Sánchez, M. Role: Autor Publishing date: 2025
    Vol.: 15
    DOI: 10.1038/s41598-025-95590-x ISSN or title: 2045-2322
  • Molecular Medicine, Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis
    Name: Giroud, J.; Sotillo,F.; Hernandez, G.; Ruano, I.; Sebastián, D.; Fort, J.; Sánchez, M.; Weiss, G.; Prats, N.; Zorzano, A.; Palacín, M.; Bodoy, S. Role: Autor Publishing date: 2025
    Vol.: 31
    DOI: 10.1186/s10020-025-01100-0 ISSN or title: 1528-3658
  • Hemasphere, Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
    Name: Iolascon, A.; Andolfo, I.; Russo, R.; Sánchez, M.; Busti, F.; Swinkels, D.; Aguilar , P.; Bou, R.; Muckenthaler, M.; Unal , S.; Porto, G.; Ganz, T.; Kattamis, A.; De Franceschi, L.; Cappellini, M.; Munro , M.; Taher, A. Role: Autor Publishing date: 2024
    Vol.: 8 No.: 7
    DOI: 10.1002/hem3.108 ISSN or title: 2572-9241
  • NATURE METABOLISM, Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype
    Name: Maus, M.; López, V.; Mateo, L.; Lafarga, M.; Aguilera, M.; De Lama, E.; Meyer, K.; Sola, A.; Lopez, C.; López, I.; Guasch, M.; Hernandez, F.; Chaib, S.; Rovira, M.; Sánchez, M.; Faner, R.; Agusti, A.; Diéguez, R.; Ortega, S.; Manonelles, A.; Engelhardt, S.; Monteiro, F.; Stephan-Otto, C.; Prats, N.; Albaiceta, G.; Cruzado, J.; Serrano, M. Role: Autor Publishing date: 2023
    Start page: 2111 End page: 2130 Vol.: 5
    DOI: 10.1038/s42255-023-00928-2 ISSN or title: 2522-5812
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernández Viedma, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández , M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez-Valencia, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: 10.3390/ijms24129935 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernandez, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández, M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: 10.3390/ijms24129935 ISSN or title: 1422-0067
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
    Name: Hernández Viedma, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M. Role: Autor Publishing date: 2023
    Start page: 581 End page: 587 Vol.: 108 No.: 2
    DOI: 10.3324/haematol.2022.281277 ISSN or title: 0390-6078
  • Health Expectations, Haemochromatosis patients' research priorities: Towards an improved quality of life
    Name: Romero, L.; Venturi, V.; Martín-Sánchez, JC; Kosta, K.; Prince, D.; Butzeck, B.; Porto, G.; Thorm, N.; Sánchez, M. Role: Autor Publishing date: 2023
    DOI: 10.1111/hex.13830 ISSN or title: 1369-7625
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive Congenital Dyserythropoietic Anemia type III.
    Name: Hernandez, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M. Role: Autor Publishing date: 2022
    ISSN or title: 0390-6078
  • British Journal of Haematology, The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*
    Name: Sánchez, M. Role: Autor Publishing date: 2022
    Start page: 459 End page: 459 Vol.: 198 No.: 3
    DOI: 10.1111/bjh.18191 ISSN or title: 1365-2141
  • Hemasphere, The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
    Name: Roy, N.; Da Costa, L.; Russo, R.; Bianchi, P.; Manu-Pereira, M.; Fermo, E.; Andolfo, I.; Clark, B.; Proven, M.; Sánchez, M.; van Wijk, R.; van der Zwaag, B.; Layton, M.; Rees, D.; Iolascon, A. Role: Autor Publishing date: 2022
    Vol.: 6 No.: 6
    DOI: 10.1097/HS9.0000000000000739 ISSN or title: 2572-9241
  • International Journal of Molecular Sciences, New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation
    Name: Romero, L.; Hernández Viedma, G.; Ferrer, X.; Zalba-Jadraque, L.; Fuster, JL.; Bermúdez-Cortés, M.; Galera-Minarro, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2022
    Vol.: 23 No.: 8
    DOI: 10.3390/ijms23084406 ISSN or title: 1422-0067
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernández Viedma, G.; Ferrer, X.; Venturi, V.; Mara, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: 10.3390/genes12121980 ISSN or title: 2073-4425
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernandez, G.; Ferrer, X.; Venturi, V.; Musri, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: 10.3390/genes12121980 ISSN or title: 2073-4425
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernández Viedma, G.; Ferrer, X.; Hernández-Rodriguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez-Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: 10.3390/ijms22115451 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernandez, G.; Ferrer, X.; Hernández-Rodríguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: 10.3390/ijms22115451 ISSN or title: 1422-0067
  • Haematologica-the Hematology journal, A mutation in the Iron-Responsive Element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated Erythropoietic Protoporphyria
    Name: Duncamp, S.; Luscieti, S.; Ferrer, X.; Nicolas, G.; Manceau, H.; Peoc’h, K.; Yien, Y.Y.; Kannengiesser, C.; Gouya, L.; Puy, H.; Sánchez, M. Role: Autor Publishing date: 2021
    Start page: 2030 End page: 2033 Vol.: 106 No.: 7
    DOI: 10.3324/haematol.2020.272450 ISSN or title: 0390-6078
  • Blood, Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payan, S.; Tornador, C.; Hernández, G.; Bianchi, P.; Sánchez, M.; Ramirez, J.C.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2021
    Vol.: 138 No.: 1
    DOI: 10.1182/blood-2021-152332 ISSN or title: 0006-4971
  • Hemasphere, Control of Systemic Iron Homeostasis by the 3' Iron-Responsive Element of Divalent Metal Transporter 1 in Mice
    Name: Tybl, E.; Gunshin, H.; Gupta, S.; Barrientos, T.; Bonadonna, M.; Celma, F.; Palais, G.; Karim, Z.; Sánchez, M.; Andrews, N.; Galy, B. Role: Autor Publishing date: 2020
    Vol.: 4 No.: 5
    DOI: 10.1097/HS9.0000000000000459 ISSN or title: 2572-9241
  • International Journal of Molecular Sciences, Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis
    Name: Vila-Cuenca, M.; Marchi, G.; Barque, A.; Esteban-Jurado, C.; Marchetto, A.; Giorgetti , A.; Chelban, V.; Houlden, H.; Wood , NW.; Piubelli, C.; Dorigatti-Borges, M.; Martins-de-Albuquerque, D.; Yotsumoto-Fertrin, K.; Jové-Buxeda, E.; Sanchez-Delgado, J.; Baena-Díez, N.; Burnyte, B.; Utkus, A.; Busti, F.; Kaubrys, G.; Suku, E.; Kowalczyk, K.; Karaszewski, B.; Porter, JB.; Pollard, S.; Eleftheriou, P.; Bignell, P.; Girelli, D.; Sánchez, M. Role: Autor Publishing date: 2020
    Vol.: 21 No.: 7
    DOI: 10.3390/ijms21072374 ISSN or title: 1422-0067
  • Blood, Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payán, S.; Tornador, C.; Hernandez, G.; Sánchez, M.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2020
    Vol.: 136 No.: 1
    DOI: 10.1182/blood-2020-139207 ISSN or title: 0006-4971
  • Frontiers in Physiology, CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia
    Name: Tornador, C.; Sánchez-Prados, E.; Cadenas, B.; Russo, R.; Venturi, V.; Andolfo, I.; Hernández-Rodriguez, I.; Iolascon, A.; Sánchez, M. Role: Autor Publishing date: 2019
    Vol.: 10
    DOI: 10.3389/fphys.2019.01063 ISSN or title: 1664-042X
  • Pharmaceuticals, L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases
    Name: Cadenas, B.; Fita-Torró, J.; Bermúdez-Cortés, M.; Hernández-Rodriguez, I.; Fuster, JL.; Llinares, ME.; Galera, AM.; Romero, JL.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2019
    Vol.: 12 No.: 1
    DOI: 10.3390/ph12010017 ISSN or title: 1424-8247
  • Haematologica-the Hematology journal, The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
    Name: Riley LG; Heeney, M.; Rudinger-Thirion, J.; Frugier, M.; Campagna, D.R.; Zhou, R.; Hale, G.; Hilliard, LM.; Kaplan, J.A.; Kwiatkowski, J.L.; Sieff, C.A.; Steensma, D.P.; Rennings, A.J.; Simons, A.; Schaap, N.; Roodenburg, R.J.; Kleefstra, T.; Arenillas, L.; Fita-Torró, J.; Ahmed, R.; Abboud, M.; Bechara, E.; Farah, R.; Tamminga, R.Y.J.; Bottomley, S.S.; Sánchez, M.; Swinkels, D.W.; Christodoulou, J.; Fleming, M.D. Role: Autor Publishing date: 2018
    Start page: 2008 End page: 2015 Vol.: 103 No.: 12
    DOI: 10.3324/haematol.2017.182659 ISSN or title: 0390-6078
  • Hepatology international, Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
    Name: Adams, P.; Altes Hernández, A.; Brissot, P.; Butzeck, B.; Cabantchik, I.; Cançado, R.; Distante, S.; Evans, P.; Evans, R.; Ganz, T.; Girelli, D.; Hultcrantz, R.; McLaren, G.; Marris, B.; Milman, N.; Nemeth, E.; Nielsen, P.; Pineau, B.; Piperno, A.; Porto, G.; Prince, D.; Ryan, J.; Sánchez, M.; Santos, P.; Swinkels, D.; Teixeira, E.; Kosta, K.; Vanclooster, A.; White, D. Role: Autor Publishing date: 2018
    Start page: 83 End page: 88 Vol.: 12 No.: 2
    DOI: 10.1007/s12072-018-9855-0 ISSN or title: 1936-0533
  • Scientific Reports, Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.
    Name: Van de Sompele, S.; Pécheux, L.; Couso, J.; Meunier, A.; Sánchez, M.; De Baere, E. Role: Autor Publishing date: 2017
    Start page: 1 End page: 10 Vol.: 7 No.: 18025
    DOI: 10.1038/s41598-017-18326-6 ISSN or title: 2045-2322
  • Blood, The actin binding protein profilin 2 is a novel regulator of iron homeostasis.
    Name: Luscieti, S.; Galy, B.; Gutierrez, L.; Reinke, M.; Couso, J.; Shvartsman, M.; Di Pascale, A.; Witke, W.; Hentze, M.W.; Pilo Boyl, P.; Sánchez, M. Role: Autor Publishing date: 2017
    Start page: 1934 End page: 1945 Vol.: 130 No.: 17
    DOI: 10.1182/blood-2016-11-754382 ISSN or title: 0006-4971
  • Genética Médica y Genómica, Cuando el hierro es tóxico
    Name: Barqué, A.; Sánchez, M. Role: Autor Publishing date: 2017
    Start page: 49 End page: 60 Vol.: 1 No.: 1
    ISSN or title: 2605-0463
  • Haematologica-the Hematology journal, The European Hematology Association Roadmap for European Hematology Research: a consensus document
    Name: Engert, A.; Balduini, C.; Brand, A.; Coiffier, B.; Sánchez, M.; European Hematology Research authors, A. Role: Autor Publishing date: 2016
    Start page: 115 End page: 208 Vol.: 101 No.: 2
    DOI: 10.3324/haematol.2015.136739 ISSN or title: 0390-6078
  • Molecular genetics and genomics, Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3
    Name: Joshi, R.; Shvartsman, M.; Morán, E.; Lois, S.; Aranda, J.; Barqué, A.; de la Cruz, X.; Bruguera, M.; Vagace, J.M.; Gervasini, G.; Sanz, C.; Sánchez, M. Role: Autor Publishing date: 2015
    Start page: 221 End page: 232 Vol.: 3 No.: 3
    DOI: 10.1002/mgg3.136 ISSN or title: 1617-4615
  • Human mutation, Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies
    Name: de Falco, L.; Silvestri, L.; Kannengiesser, C.; Morán, E.; Oudin, C.; Rausa, M.; Bruno, M.; Aranda, J.; Argiles, B.; Yenicesu, I.; Falcon-Rodriguez, M.; Yilmaz-Keskin, E.; Kocak, U.; Beaumont, C.; Camaschella, C.; Iolascon, A.; Grandchamp , B.; Sánchez, M. Role: Autor Publishing date: 2014
    Start page: 1321 End page: 1329 Vol.: 35 No.: 11
    DOI: 10.1002/humu.22632 ISSN or title: 1059-7794
  • Patient education and counseling, The importance of the general practitioner as an information source for patients with hereditary haemochromatosis
    Name: Teixeira, E.; Borlido-Santos, J.; Brissot, P.; Butzeck, B.; Courtois, F.; Evans, R.W.; Fernau, J.; Nunes, J.A.; Mullett, M.; Paneque, M.; Pineau, B.; Porto, G.; Sorrill, R.; Sánchez, M.; Swinkels, D.W.; Toska, K.; Varkonyi, J.; EFAPH Role: Autor Publishing date: 2014
    Start page: 86 End page: 92 Vol.: 96 No.: 1
    DOI: 10.1016/j.pec.2014.04.017 ISSN or title: 0738-3991
  • Medicina Clinica, Systematic approach to the diagnosis of hyperferritinemia
    Name: Altés, A.; Pérez-Lucena, M.J.; Bruguera, M.; Sánchez, M.; Grp Iberico Ferropatologia Role: Autor Publishing date: 2014
    Start page: 412 End page: 417 Vol.: 142 No.: 9
    DOI: 10.1016/j.medcli.2013.06.010 ISSN or title: 1578-8989 00257753
  • PLoS One, Molecular Evolution of Multiple-Level Control of Heme Biosynthesis Pathway in Animal Kingdom
    Name: Tzou, W.S.; Chu, Y.; Lin, T.Y.; Hu, C.H.; Pai, T.W.; Liu, H.F.; Lin, H.J.; Cases, I.; Rojas, A.; Sánchez, M.; You, Z.Y.; Hsu, M.W. Role: Autor Publishing date: 2014
    Vol.: 9 No.: 1
    DOI: 10.1371/journal.pone.0086718 ISSN or title: 1932-6203
  • British journal of haematology, Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications
    Name: Athiyarath, R.; Arora, N.; Fuster, F.; Schwarzenbacher, R.; Ahmed, R.; George, B.; Chandy, M.; Srivastava, A.; Rojas, A.M.; Sánchez, M.; Edison, E.S. Role: Autor Publishing date: 2013
    Start page: 404 End page: 407 Vol.: 163 No.: 3
    DOI: 10.1111/bjh.12487 ISSN or title: 0007-1048
  • Haematologica-the Hematology journal, Iron refractory iron deficiency anemia
    Name: de Falco, L.; Sánchez, M.; Silvestri, L.; Kannengiesser, C.; Muckenthaler, M.; Iolascon, A.; Gouya, L.; Camaschella, C.; Beaumont, C. Role: Autor Publishing date: 2013
    Start page: 845 End page: 853 Vol.: 98 No.: 6
    DOI: 10.3324/haematol.2012.075515 ISSN or title: 0390-6078
  • Orphanet journal of rare diseases, Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
    Name: Luscieti, S.; Tolle, G.; Aranda, J.; Benet-Campos, C.; Risse F.; Morán, E.; Muckenthaler, M.; Sánchez, M. Role: Autor Publishing date: 2013
    Vol.: 8
    DOI: 10.1186/1750-1172-8-30 ISSN or title: 1750-1172
  • Journal of molecular medicine (JMM), Siderophore-mediated iron trafficking in humans is regulated by iron
    Name: Liu, Z.; Lanford, R.; Mueller, S.; Gerhard, G.S.; Luscieti, S.; Sánchez, M.; Devireddy, L. Role: Autor Publishing date: 2012
    Start page: 1209 End page: 1221 Vol.: 90 No.: 10
    DOI: 10.1007/s00109-012-0899-7 ISSN or title: 0946-2716
  • Blood, Iron regulatory protein-1 and-2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins
    Name: Sánchez, M.; Galy, B.; Schwanhaeusser, B.; Blake, J.; Bähr-Ivacevic, T.; Benes, V.; Selbach, M.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2011
    Start page: e168 End page: e179 Vol.: 118 No.: 22
    DOI: 10.1182/blood-2011-04-343541 ISSN or title: 0006-4971
  • Immunobiology, Mycobacteria-induced anaemia revisited: A molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin
    Name: Rodrigues P.N; Gomes, S.; Neves, J.; Gomes-Pereira, S.; Correia-Neves, M.; Nunes-Alves, C.; Stolte, J.; Sánchez, M.; Appelberg, R.; Muckenthaler, M. Role: Autor Publishing date: 2011
    Start page: 1127 End page: 1134 Vol.: 216 No.: 10
    DOI: 10.1016/j.imbio.2011.04.004 ISSN or title: 0171-2985
  • Haematologica-the Hematology journal, Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
    Name: Kannengiesser, C.; Sánchez, M.; Sweeney, M.; Hetet, G.; Kerr, B.; Moran, E.; Fuster Soler, J.; Maloum, K.; Matthes, T.; Oudot, C.; Lascaux, A.; Pondarre, C.; Sevilla Navarro, J.; Vidyatilake, S.; Beaumont, C.; Grandchamp , B.; May, A. Role: Autor Publishing date: 2011
    Start page: 808 End page: 813 Vol.: 96 No.: 6
    DOI: 10.3324/haematol.2010.039164 ISSN or title: 0390-6078
  • Nucleic acids research, SIREs: searching for iron-responsive elements
    Name: Campillos, M.; Cases, I.; Hentze, M.W.; Sánchez, M. Role: Autor Publishing date: 2010
    Start page: W360 End page: W367 Vol.: 38 No.: sup. 2
    DOI: 10.1093/nar/gkq371 ISSN or title: 0305-1048
  • BMC bioinformatics, The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays
    Name: Vainshtein, Y.; Sánchez, M.; Brazma, A.; Hentze, M.W.; Dandekar, T.; Muckenthaler, M. Role: Autor Publishing date: 2010
    Vol.: 11
    DOI: 10.1186/1471-2105-11-112 ISSN or title: 1471-2105
  • Human molecular genetics, Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
    Name: Ramsay, A.J.; Quesada, V.; Sánchez, M.; Garabaya, C.; Sardà, M.P.; Baiget M; Remacha, A.; Velasco, G.; López-Otín C. Role: Autor Publishing date: 2009
    Start page: 3673 End page: 3683 Vol.: 18 No.: 19
    DOI: 10.1093/hmg/ddp315 ISSN or title: 0964-6906
  • Blood, Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element? [10]
    Name: Percy, MJ.; Sánchez, M.; Swierczek, S.; Mcmullin, MF.; Mojica-Henshaw, MP.; Muckenthaler, M.; Prchal, JT.; Hentze, M.W. Role: Autor Publishing date: 2007
    Start page: 2776 End page: 2777 Vol.: 110 No.: 7
    DOI: 10.1182/blood-2007-03-082503 ISSN or title: 0006-4971
  • Nature protocols (Print), Identification of target mRNAs of regulatory RNA binding proteins using mRNP immunopurification and microarrays
    Name: Sánchez, M.; Galy, B.; Hentze, M.W.; Muckenthaler, M. Role: Autor Publishing date: 2007
    Start page: 2033 End page: 2042 Vol.: 2 No.: 8
    DOI: 10.1038/nprot.2007.293 ISSN or title: 1754-2189
  • Nature structural and molecular biology, Iron-regulatory proteins limit hypoxia-inducible factor-2α expression in iron deficiency
    Name: Sánchez, M.; Galy, B.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2007
    Start page: 420 End page: 426 Vol.: 14 No.: 5
    DOI: 10.1038/nsmb1222 ISSN or title: 1545-9993
  • Journal of biological chemistry, Iron regulation and the cell cycle - Identification of an iron-responsive element in the 3 '-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy
    Name: Sánchez, M.; Galy, B.; Dandekar, T.; Bengert, P.; Vainshtein, Y.; Stolte, J.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2006
    Start page: 22865 End page: 22874 Vol.: 281 No.: 32
    DOI: 10.1074/jbc.M603876200 ISSN or title: 0021-9258
  • Endocrine, The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Name: Oliva, R.; Novials, A.; Sánchez, M.; Villa, M.; Ingelmo, M.; Recasens, M.; Ascaso, C.; Bruguera, M.; Gomis, R. Role: Autor Publishing date: 2004
    Start page: 111 End page: 114 Vol.: 24 No.: 2
    DOI: 10.1385/ENDO:24:2:111 ISSN or title: 0969-711X
  • Nature genetics, An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
    Name: Roy, CN.; Custodio, AO.; de Graaf, J.; Schneider, S.; Akpan, I.; Montoss, LK.; Sánchez, M.; Gaudino, A.; Hentze, M.W.; Andrews, N.; Muckenthaler, M. Role: Autor Publishing date: 2004
    Start page: 481 End page: 485 Vol.: 36 No.: 5
    DOI: 10.1038/ng1350 ISSN or title: 1061-4036
  • Journal of hepatology, Population screening for hemochromatosis: a study in 5370 Spanish blood donors
    Name: Sánchez, M.; Villa, M.; Ingelmo, M.; Sanz, C.; Bruguera, M.; Ascaso, C.; Oliva, R. Role: Autor Publishing date: 2003
    Start page: 745 End page: 750 Vol.: 38 No.: 6
    DOI: 10.1016/S0168-8278(03)00123-5 ISSN or title: 0168-8278
  • Blood cells molecules and diseases, Complete characterization of the 3′ region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    Name: Sánchez, M.; Bruguera, M.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2001
    Start page: 35 End page: 43 Vol.: 27 No.: 1
    DOI: 10.1006/bcmd.2000.0346 ISSN or title: 1079-9796
  • Gastroenterologia y Hepatologia, Clinical usefulness of the detection of mutations of the HFE gene in hemochromatosis
    Name: Oliva, R.; Sánchez, M.; Bruguera, M.; Rodes, J. Role: Autor Publishing date: 2000
    Start page: 433 End page: 435 Vol.: 23 No.: 9
    ISSN or title: 0210-5705
  • Genetic testing, Hereditary Hemochromatosis in Spain
    Name: Sánchez, M.; Bruguera, M.; Quintero, E.; Barrio, Y.; Mazzara, R.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2000
    Start page: 171 End page: 176 Vol.: 4 No.: 2
    DOI: 10.1089/10906570050114885 ISSN or title: 1090-6576
  • Gene, Cloning, sequencing and characterization of the rat HFE promoter. Comparison of the human, mouse and rat hemochromatosis HFE promoter regions
    Name: Sánchez, M.; Queralt, R.; Bruguera, M.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 77 End page: 87 Vol.: 225 No.: 1-2
    DOI: 10.1016/S0378-1119(98)00519-8 ISSN or title: 0378-1119
  • Journal of hepatology, revalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez, M.; Bruguera, M.; Bosch, J.; Rodes, J.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 725 End page: 728 Vol.: 29 No.: 5
    ISSN or title: 0168-8278
  • Biochemical and biophysical research communications, Identification of conserved potentially regulatory sequences of the SRY gene from different species of mammals
    Name: Margarit, E.; Guillem, A.; Rebordosa, C.; Vidal-Taboada, J.; Sánchez, M.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 370 End page: 377 Vol.: 245 No.: 2
    DOI: 10.1006/bbrc.1998.8441 ISSN or title: 0006-291X
  • Biochemical and biophysical research communications, High resolution mapping and identification of transcribed sequences in the Down Syndrome region-2
    Name: Vidal-Taboada, J.; Bergoñon, S.; Sánchez, M.; López-Acedo, C.; Groet, J.; Nižetić, D.; Egeo, A.; Scartezzini, P.; Katsanis, N.; Fisher, E.; Delabar, J.M.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 572 End page: 578 Vol.: 243 No.: 2
    DOI: 10.1006/bbrc.1998.8141 ISSN or title: 0006-291X
  • Capítulo 19 Hemocromatosis. Eritropatología. 2nd Edition.
    Name: Sánchez, M. Role: Autor Publishing date: 31/05/2024
    Start page: 501 End page: 516
    ISBN: 978-84-125780-7-2
  • Capítulo Anemias Sideroblásticas Congénitas.. Guía de Recomendaciones para el Diagnóstico Genético y Seguimiento de Neoplasias Hematológicas
    Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 02/10/2017
  • Capítulo Hemocromatosis. Guía de recomendaciones para el diagnóstico genético y seguimiento de neoplasias
    Name: Sánchez, M.; Blas-López, C. Role: Autor Publishing date: 02/10/2017
  • Capítulo 30 Hemocromatosis Hereditaria. Eritropatología
    Name: Sánchez, M.; Altés, A. Role: Autor Publishing date: 11/09/2017
    Start page: 569 End page: 582
    ISBN: 978-84-945945-4-0
  • Capítulo 8 Anemias sideroblásticas congénitas.. Eritropatología
    Name: Sánchez, M. Role: Autor Publishing date: 11/09/2017
    ISBN: 978-84-945945-4-0
  • Capítulo 33. Anemias sideroblásticas congénitas. Manual Práctico de Genética Hematológica
    Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 01/06/2016
    ISBN: 9788460857570
  • Capítulo 36. Hemocromatosis. Manual Práctico de Genética Hematológica
    Name: Sánchez, M.; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C. Role: Autor Publishing date: 01/06/2016
    ISBN: 9788460857570
  • Tema 3. Trastornos del hierro en el organismo y métodos de estudio. Dentro del Módulo 4. Anemia y Poliglobulia.. Experto en bases del diagnóstico en Hematología
    Name: Sánchez, M. Role: Autor Publishing date: 01/05/2016
    ISBN: 9788491100317
  • Capítulo 15: Métodos para el diagnóstico de la ferropenia y el exceso de hierro. Manual de técnicas de laboratorio en hematología
    Name: Sánchez, M.; Vives-Corrons, J.L. Role: Autor Publishing date: 01/06/2014
    Start page: 390 End page: 433
    ISBN: 987-84-458-2147-3
  • Hereditary non-sideroblastic Anemia and Inherited Iron disorders. ENERCA reccommendations for Centres of Expertise in rare anaemias: A White Book
    Name: Sánchez, M. Role: Autor Publishing date: 01/05/2014
    ISBN: 978-84-939018-8-1
  • Capitulo 31. Práctica 6: bases de dades i d'anàlisi de seqüències a internet. Genética Médica
    Name: Oliva, R.; Vidal-Taboada, J.; Sánchez, M. Role: Autor Publishing date: 01/05/2013
    ISBN: 978-84-475-3688-7
  • Cellular Iron Metabolism- the IRP/IRE regulatory network. Iron Metabolism
    Name: Joshi, R.; Morán, E.; Sánchez, M. Role: Autor Publishing date: 01/05/2012
    Start page: 25 End page: 58
    ISBN: 978-953-51-0650-0
  • Capitol 29: Base de dades i d'anàlisis de seqüències a internet. Genètica Mèdica
    Name: Vidal-Taboada, J.; Sánchez, M.; Oliva, R. Role: Autor Publishing date: 01/01/2004
    ISBN: 84-475-2809-X
Course 2025-2026 - Period: 01/09/2025 - 31/08/2026
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Final Degree Project
    • - Clinical Genetics
    • - Genetics
    • - External Laboratory Practices
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Practicum I
    • - Final Master's Degree Project
    • - Practicum II
    • - Research On Rare Diseases
Course 2024-2025 - Period: 01/09/2024 - 31/08/2025
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Clinical Genetics
    • - Genetics
    • - Final Degree Project
    • - Work Placement
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2023-2024 - Period: 01/09/2023 - 31/08/2024
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2022-2023 - Period: 01/09/2022 - 31/08/2023
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2021-2022 - Period: 01/09/2021 - 31/08/2022
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2020-2021 - Period: 01/09/2020 - 31/08/2021
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2019-2020 - Period: 01/09/2019 - 31/08/2020
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
Course 2018-2019 - Period: 01/09/2018 - 31/08/2019
  • Bachelor’s Degree
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Others
    UIC - Specific Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Integrated Biomedicine I